Results 31 to 40 of about 971 (183)

Inherited deletion of 9p22.3‐p24.3 and duplication of 18p11.31‐p11.32 associated with neurodevelopmental delay: Phenotypic matching of involved genes

Journal of Cellular and Molecular Medicine, Volume 27, Issue 4, Page 496-505, February 2023., 2023
Abstract We describe a 3.5‐year‐old Iranian female child and her affected 10‐month‐old brother with a maternally inherited derivative chromosome 9 [der(9)]. The postnatally detected rearrangement was finely characterized by aCGH analysis, which revealed a 15.056 Mb deletion of 9p22.3‐p24.3p22.3 encompassing 14 OMIM morbid genes such as DOCK8, KANK1 ...
Naser Ajami, Mohammad Amin Kerachian, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Susan Hosseini, Peter N. Robinson, Mohammad Reza Abbaszadegan   +6 more
wiley   +1 more source

Masculinizing surgery in disorders/differences of sex development: clinician‐ and participant‐evaluated appearance and function

BJU International, Volume 129, Issue 3, Page 394-405, March 2022., 2022
Objectives To report the long‐term follow‐up outcomes of masculinizing surgery in disorders/differences of sex development (DSD), including both physicians' and patients’ perspectives on appearance and functional outcome, including sexuality. Patients and Methods In total, 1040 adolescents (age ≥16 years) and adults with a DSD took part in this ...
Tim C. van de Grift, Marion Rapp, Gundela Holmdahl, Lise Duranteau, Agneta Nordenskjold, on behalf of the dsd‐LIFE group, Birgit Kohler, Uta Neumann, Peggy Cohen‐Kettenis, Baudewijntje Kreukels, Annelou de Vries, Wiebke Arlt, Claudia Wiesemann, Jolanta Slowikowska‐Hilczer, Ute Thyen, Marion Rapp, Aude Brac de la Perriere, Charles Sultan, Francoise Paris, Nicole Reisch, Annette Richter‐Unruh, Hedi Claahsen–van der Grinten, Claire Bouvattier, Lise Duranteau, Anna Nordenström, Agneta Nordenskjöld, Catherine Pienkowski, Maria Szarras‐Czapnik   +27 more
wiley   +1 more source

Gonadoblastoma with Dysgerminoma Presenting as Virilizing Disorder in a Young Child with 46, XX Karyotype: A Case Report and Review of the Literature

Case Reports in Endocrinology, Volume 2022, Issue 1, 2022., 2022
Gonadoblastoma is a neoplasm containing an intimate mixture of germ cells and elements resembling immature granulosa or Sertoli cells. It has been considered as in situ germ cell malignancy that can be associated with malignant components. The tumor has been reported to almost exclusively develop in various types of gonadal gene mutation syndromes ...
Prathamesh Chandrapattan, Amitabh Jena, Rashmi Patnayak, Swayamsidha Mangaraj, Sujata Naik, Saroj Panda, Osamu Isozaki   +6 more
wiley   +1 more source

An Unusual Clinical and Radiological Presentation of Ovotesticular Disorders of Sex Development with Male and Female External Genitalia: A Case Report

European Medical Journal Reproductive Health, 2023
Background: Ovotesticular disorders of sex development (ODSD), previously known as true hermaphroditism, is a rare disorder of sexual differentiation that causes ambiguity in external genitalia and the presence of both ovarian and testicular elements in
Muhammad Tahir Khan, Abeer Yasin, Rewati Raman, Nighat Haroon Khan   +3 more
doaj   +1 more source

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

Clinical Endocrinology, Volume 95, Issue 6, Page 818-840, December 2021., 2021
Abstract It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional DSD service. In most cases, the paediatric endocrinologist within this service acts as
S. Faisal Ahmed, John Achermann, Julie Alderson, Naomi S. Crouch, Sue Elford, Ieuan A. Hughes, Nils Krone, Ruth McGowan, Talat Mushtaq, Stuart O’Toole, Leslie Perry, Martina E. Rodie, Mars Skae, Helen E. Turner   +13 more
wiley   +1 more source

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development

American Journal of Medical Genetics Part A, Volume 185, Issue 9, Page 2782-2788, September 2021., 2021
Abstract Ovotesticular differences of sexual development (OT‐DSD) are rare genetic variances defined by the coexistence of both testicular and ovarian tissues. Various molecular etiologies including SRY translocation or SOX9 pathogenic variants with different modes of inheritance have been associated with 46,XX OT‐DSD.
Zhiyu Qian, Katheryn Grand, Andrew Freedman, Maria C. Nieto, Andrea Behlmann, Bahareh M. Schweiger, Pedro A. Sanchez‐Lara   +6 more
wiley   +1 more source

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature

Case Reports in Pathology, Volume 2021, Issue 1, 2021., 2021
Disorder of sex development (DSD) is a rare condition with atypical development of chromosomal, gonadal, or anatomical sex. It is classified in different subgroups based on the patient’s karyotype, gonadal dysgenesis, and the appearance of the internal and external genitalia. Within the subgroups, the risk for developing neoplasms varies a lot.
Steffen Gretser, Maria-Noemi Welte, Frederik Roos, Jens Köllermann, Evelina Miele   +4 more
wiley   +1 more source

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype

Urology Case Reports, 2016
Ovotesticular disorder of sex development is historically thought to confer a relatively low risk of germ cell malignancy relative to other disorders of sex development.
Russell E.N. Becker, Ardavan Akhavan
doaj   +1 more source

Ovotesticular disorder of sex development in a tertiary care center in North India: A single-center analysis over a 5-year period

National Journal of Clinical Anatomy, 2023
Background: Disorders of sexual development (DSD) encompass a group of congenital conditions characterized by diverse genotypic and phenotypic variations. Ovotesticular (OT) DSD is a distinctive subtype within this spectrum.
Sarita Chowdhary, Maneesha Upadhayaya, Gunjan Rai, Manpreet Kaur, Nitish Kumar Singh, Kanika Sharma, Ritesh Yadav, Bitan Naik, Shiv Prasad Sharma, Royana Singh   +9 more
doaj   +1 more source

Disturbed Ovarian Differentiation in XX;SRY-Negative Dogs [PDF]

, 2019
In a mammal, at the beginning of its development, the gonad is bipotential. The shift into a male or female pathway is coordinated by the sex chromosomal complement, which triggers a series of genetic pathways signaling the developmental pattern of the ...
Payan-Carreira, Rita
core   +1 more source